Neopterin/Tetrahydrobiopterin (CSF)

Test Details
TEST METHODOLOGY HPLC/Electrochemistry/Fluorescence
TAT (TURNAROUND TIME) 10 - 14 days
CPT CODE 82542
PRICE $200
  • CSF Collection Tubes (set of 5 tubes per kit)

Order Kit

Clinical Information
Clinical Significance CSF Neopterin/Tetrahydrobiopterin (NC03) is useful for diagnosis of certain disorders of neurotransmitter metabolism. This testing may also be used for assessment of Variants of Uncertain Significance (VUS) identified during genetic testing (e.g. Next Generation Sequencing or Capillary Sequencing Testing). CLINICAL Tetrahydrobiopterin (BH4) serves as a cofactor for the hydroxylation of phenylalanine and in the biosynthesis of biogenic amines. Deficiency of BH4 may occur as a result of mutations causing a reduction in one of the three biosynthetic enzymes, guanosine triphosphate cyclohydrolase, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, or the two regenerating enzymes, pterin-4-carbinolamine dehydratase, and dihydropteridine reductase. Defects in BH4 metabolism can result in hyperphenylalaninemia and deficiency of the neurotransmitters dopamine and serotonin. Changes in CSF neopterin may also occur in deficiency of the BH4 synthesis pathway. Disorders of BH4 metabolism are characterized by a wide range of symptoms that may include developmental delay, mental disability, behavioral disturbances, dystonia, Parkinsonian symptoms, gait disturbances, speech delay, psychomotor retardation and ptosis.
Relevant Diseases
  • BH4-Deficient Hyperphenylalaninemia C
  • Dopa-Responsive Dystonia Due to Sepiapterin Reductase Deficiency
  • BH4-Deficient Hyperphenylalaninemia A
  • BH4-Deficient Hyperphenylalaninemia B
  • BH4-Deficient Hyperphenylalaninemia D
  • Dopa-Responsive Dystonia

Specimen Information
Acceptable Sample Types
  • Cerebrospinal Fluid (CSF)
Sample Preparation: This test may only be ordered if collecting CSF specimen with an MNG Collection Kit. Fill Tube 3 to the marked line; 1.0 milliliter. Without MNG CSF Collection Kit: Please order Neopterin, NC02. Test orders for NC03 without an MNG Collection Kit will automatically be cancelled with notification to the provider and the opportunity to order NC02.
Shipping Condition: Ship samples priority overnight on 3-4 lbs of dry ice. Sample must arrive in our lab Monday - Saturday. We do NOT accept Sunday or holiday deliveries.

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